SERPINF1
Pigment epithelium-derived factor
Also known as: EPC-1, PEDF, PEDF_HUMAN, PIG35
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P36955
- Gene
- SERPINF1
- Ensembl
- ENSG00000132386
- Chromosome
- 17
- Canonical length
- 418 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted secreted proteins
- Secretome location
- Secreted to blood
OverviewNCBI Gene
This gene encodes a member of the serpin family that does not display the serine protease inhibitory activity shown by many of the other serpin proteins. The encoded protein is secreted and strongly inhibits angiogenesis. In addition, this protein is a neurotrophic factor involved in neuronal differentiation in retinoblastoma cells. Mutations in this gene were found in individuals with osteogenesis imperfecta, type VI. [provided by RefSeq, Aug 2016]
Canonical amino-acid sequenceUniProt
418 residues, UniProt reviewed canonical sequence.
>P36955|SERPINF1
1 MQALVLLLCI GALLGHSSCQ NPASPPEEGS PDPDSTGALV EEEDPFFKVP VNKLAAAVSN
61 FGYDLYRVRS STSPTTNVLL SPLSVATALS ALSLGAEQRT ESIIHRALYY DLISSPDIHG
121 TYKELLDTVT APQKNLKSAS RIVFEKKLRI KSSFVAPLEK SYGTRPRVLT GNPRLDLQEI
181 NNWVQAQMKG KLARSTKEIP DEISILLLGV AHFKGQWVTK FDSRKTSLED FYLDEERTVR
241 VPMMSDPKAV LRYGLDSDLS CKIAQLPLTG SMSIIFFLPL KVTQNLTLIE ESLTSEFIHD
301 IDRELKTVQA VLTVPKLKLS YEGEVTKSLQ EMKLQSLFDS PDFSKITGKP IKLTQVEHRA
361 GFEWNEDGAG TTPSPGLQPA HLTFPLDYHL NQPFIFVLRD TDTGALLFIG KILDPRGPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SERPINF1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.28
- Highest tissue expression
- 4,586 nTPM
Expression across tissuesHPA
Tissue
- choroid plexus: 4,586 nTPM
- liver: 911 nTPM
- adipose tissue: 568 nTPM
- breast: 537 nTPM
- gallbladder: 524 nTPM
- fallopian tube: 505 nTPM
Single-cell type
- retinal pigment epithelial cells: 4,429 nCPM
- decidual stromal cells: 3,858 nCPM
- leydig cells: 1,025 nCPM
- cytotrophoblasts: 957 nCPM
- fibroblasts: 933 nCPM
- peritubular myoid cells: 906 nCPM
Immune cell
- plasmacytoid DC: 1,458 nTPM
- myeloid DC: 80 nTPM
- total PBMC: 14 nTPM
- classical monocyte: 12 nTPM
- memory B-cell: 9 nTPM
- naive CD8 T-cell: 5.6 nTPM
Brain region
- choroid plexus: 3,986 nTPM
- hippocampal formation: 198 nTPM
- thalamus: 75 nTPM
- cerebral cortex: 56 nTPM
- cerebellum: 50 nTPM
- basal ganglia: 39 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SERPINF1.
Disease | AllUniProt
Conditions SERPINF1 is implicated in, by any mechanism.
- Osteogenesis imperfecta 6 (OI6) MIM:613982
Disease | GeneticClinVar
62 pathogenic / likely-pathogenic of 427 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Osteogenesis imperfecta type 6
- Osteogenesis imperfecta
- Abnormality of the skeletal system
- SERPINF1-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.21
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.91
- DepMap mean gene effect
- 0.07
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular response to cobalt ion
- cellular response to dexamethasone stimulus
- cellular response to glucose stimulus
- cellular response to retinoic acid
- epithelial cell proliferation involved in prostate gland development
- kidney development
- negative regulation of angiogenesis
- negative regulation of endothelial cell migration
- negative regulation of epithelial cell proliferation involved in prostate gland development
- negative regulation of gene expression
- ovulation cycle
- positive regulation of neurogenesis
- positive regulation of neuron projection development
- response to acidic pH
- response to arsenic-containing substance
- response to peptide
- retina development in camera-type eye
- short-term memory
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Serpin family
- Serpin, conserved site
- Serpin domain
- Serpin superfamily
- Serpin superfamily, domain 1
- Serpin superfamily, domain 2
- Serpin (serine protease inhibitor)
- Pigment epithelium derived factor, serpin domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SERPINF1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SERPINF1 as an antibody target. Whether an autoantibody or antibody against SERPINF1 could matter depends on whether native SERPINF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SERPINF1 is annotated as secreted, so native SERPINF1 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label SERPINF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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